A234T (p.Ala234Thr) variant of THRB (Thyroid hormone receptor beta)
A234T (p.Ala234Thr) in THRB (Thyroid hormone receptor beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Thyroid hormone resistance syndrome; not provided; Hyperthyroidism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
A234T (p.Ala234Thr) variant details
- p.Ala234Thr
- rs121918694
- ClinGen CA122489
- cosmic curated COSV54979
- ClinVar RCV000013381
- Pathogenic
- Thyroid hormone resistance syndrome; not provided; Hyperthyroidism
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- AlphaMissense 0.45
- MetaLR 0.90
- MetaSVM 0.97
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (Thyroid hormone resistance syndrome; not provided; Hyperthyroidi)
- EBI: Pathogenic (in GRTHD)
- UniProt: Pathogenic (in GRTHD)
- Population evidence available
- Structural context available
- Cited in: Thyroid hormone receptor-beta mutations conferring hormone resistance and reduced corepressor release exhibit decreased… (PMID 12511610)
- Cited in: A point mutation (Ala229 to Thr) in the hinge domain of the c-erbA beta thyroid hormone receptor gene in a family with… (PMID 1324420)